JAMA: The "cause" of Alzheimer's disease, a gene that drives the brain's amyloid plaques for the first time.

Alzheimer's disease (AD) is a degenerative disease.in the early stage, ad is characterized by aggregation of amyloid beta (a β) and tau protein in the brain and memory loss.as early as 15-20 years before the onset of Alzheimer's disease, toxic amyloid beta protein molecules have accumulated in the brain of patients.when the patient's consciousness is damaged, a large number of neurons in the brain have died, leading to brain atrophy.in this case, it is difficult to save the dead neurons by using drugs to remove amyloid deposits or tangles of nerve fibers.this is one of the reasons why the medical treatment of Alzheimer's disease has not achieved good results since it was discovered in 1907.researchers have been looking for the "culprit" of excessive accumulation of amyloid protein in the brain of patients with Alzheimer's disease.PET scanning of human brain with Alzheimer's disease recently, a study led by researchers at Irving medical center of Columbia University in the United States has identified the "culprit" genes that drive the first appearance of amyloid plaques in the brain.this finding may lead to new treatments for preventing Alzheimer's disease, as well as better ways to identify people at greatest risk for the disease.the results of the study were published in the Journal of JAMA neurology on June 22.doi:10.1001/jamaneurol.2020.1760 Specifically, to find the genes that drive the early accumulation of amyloid, the latest study examined the genomes of 4300 people whose PET images showed amyloid deposition in the brain but had not yet developed Alzheimer's disease.Dr Richard Mayeux, Professor of Neurology at Columbia University's waglos School of medicine and surgeons, who led the study, said: "by studying people with early Alzheimer's disease, we can find genes associated with the onset of the disease.these genes may lead to therapies to prevent disease progression."rbfox1 and apoE variants are associated with amyloid levels in the brain at risk of Alzheimer's disease. A genetic analysis found a link between amyloid deposition and apoE and a new gene rbfox1.about 10% of the subjects (mainly of European origin) had rbfox1 mutations, which were associated with the presence of amyloid deposition.rbfox1 seems to increase the concentration of protein fragments that make up these plaques and may lead to the rupture of critical connections between neurons.revealing exactly how rbfox1 regulates amyloid plaques may lead to the prevention of plaque accumulation. previous studies have shown that rbfox1 is involved in the formation of amyloid precursor and the destruction of synapses between neurons. the connection between rbfox1 and amyloid plaques may be relatively easy to unravel. this is different from the connection between apoE4 and amyloid protein, which has been studied for decades. Mayeux said: "I think we're going to find these markers of the ultimate disease that can really fight Alzheimer's disease. it is almost impossible to change the course of the disease when the symptoms of Alzheimer's disease appear. because at that time the disease had been developing for 10 to 15 years. if we can target the genes that activate amyloid and correct these problems in some way, we may be able to prevent the disease. "end reference: [1] Alzheimer's: new gene may drive earliestbrain changes